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Congenital Erythropoietic Porphyria

definition

Rare autosomal recessive syndrome characterized by severe mutilating photosensitivity, haemolytic anaemia with splenomegaly, and a decreased life expectancy. A deficiency of uroporphyrinogen III cosynthase results in the accumulation of predominantly type I porphyrins, large amounts of uroporphyrin I being excreted in the urine. The disease usually presents in the first few months of life. Erythema, swelling, and blistering occur in the light-exposed areas, sometimes followed by ulceration. Healing is slow with scar formation, severe scarring resulting in synechia of the fingers and mutilation with hyperpigmentation and depigmentation. Other clinical findings include hypertrichosis of the lanugo type, scarring alopecia, red fluorescence in the teeth and urine in long-wave UV, and marked photophobia.